These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

236 related articles for article (PubMed ID: 27134828)

  • 21. Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.
    Guillard M; Wada Y; Hansikova H; Yuasa I; Vesela K; Ondruskova N; Kadoya M; Janssen A; Van den Heuvel LP; Morava E; Zeman J; Wevers RA; Lefeber DJ
    J Inherit Metab Dis; 2011 Aug; 34(4):901-6. PubMed ID: 21431619
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!
    Raynor A; Vincent-Delorme C; Alaix AS; Cholet S; Dupré T; Vuillaumier-Barrot S; Fenaille F; Besmond C; Bruneel A
    Clin Chim Acta; 2021 Aug; 519():285-290. PubMed ID: 34022244
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.
    Asteggiano CG; Papazoglu M; Bistué Millón MB; Peralta MF; Azar NB; Spécola NS; Guelbert N; Suldrup NS; Pereyra M; Dodelson de Kremer R
    Pediatr Res; 2018 Dec; 84(6):837-841. PubMed ID: 30397276
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Congenital disorders of glycosylation.
    Chang IJ; He M; Lam CT
    Ann Transl Med; 2018 Dec; 6(24):477. PubMed ID: 30740408
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Congenital disorders of glycosylation.
    Jaeken J
    Handb Clin Neurol; 2013; 113():1737-43. PubMed ID: 23622397
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Western blotting with diaminobenzidine detection for the diagnosis of congenital disorders of glycosylation.
    Artuch R; Ferrer I; Pineda J; Moreno J; Busquets C; Briones P; Vilaseca MA
    J Neurosci Methods; 2003 May; 125(1-2):167-71. PubMed ID: 12763243
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.
    Bogdańska A; Lipiński P; Szymańska-Rożek P; Jezela-Stanek A; Rokicki D; Socha P; Tylki-Szymańska A
    Orphanet J Rare Dis; 2021 Jan; 16(1):17. PubMed ID: 33407696
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Fast screening of N-glycosylation disorders by sialotransferrin profiling with capillary zone electrophoresis.
    Kingma HA; van der Sluijs FH; Heiner-Fokkema MR
    Ann Clin Biochem; 2018 Nov; 55(6):693-701. PubMed ID: 29792046
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Secondary alteration of the transferrin isoelectric focusing pattern in a case of bacterial meningitis.
    Quintana E; Gala S; García-Cazorla A; Montero R; Muñoz-Almagro C; Vilaseca MA; Briones P; Artuch R
    J Inherit Metab Dis; 2007 Apr; 30(2):267. PubMed ID: 17372855
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Apolipoprotein C-III O-glycoform profiling of 500 serum samples by matrix-assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylation.
    Wada Y; Okamoto N
    J Mass Spectrom; 2021 Apr; 56(4):e4597. PubMed ID: 32677746
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Mass spectrometry for congenital disorders of glycosylation, CDG.
    Wada Y
    J Chromatogr B Analyt Technol Biomed Life Sci; 2006 Jun; 838(1):3-8. PubMed ID: 16517226
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Clinical glycomics for the diagnosis of congenital disorders of glycosylation.
    Abu Bakar N; Lefeber DJ; van Scherpenzeel M
    J Inherit Metab Dis; 2018 May; 41(3):499-513. PubMed ID: 29497882
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation.
    Bruneel A; Cholet S; Drouin-Garraud V; Jacquemont ML; Cano A; Mégarbané A; Ruel C; Cheillan D; Dupré T; Vuillaumier-Barrot S; Seta N; Fenaille F
    Electrophoresis; 2018 Dec; 39(24):3123-3132. PubMed ID: 29869806
    [TBL] [Abstract][Full Text] [Related]  

  • 34. ALG1-CDG: a new case with early fatal outcome.
    Rohlfing AK; Rust S; Reunert J; Tirre M; Du Chesne I; Wemhoff S; Meinhardt F; Hartmann H; Das AM; Marquardt T
    Gene; 2014 Jan; 534(2):345-51. PubMed ID: 24157261
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Screening and diagnosis of congenital disorders of glycosylation.
    Marklová E; Albahri Z
    Clin Chim Acta; 2007 Oct; 385(1-2):6-20. PubMed ID: 17716641
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.
    Zhang W; James PM; Ng BG; Li X; Xia B; Rong J; Asif G; Raymond K; Jones MA; Hegde M; Ju T; Cummings RD; Clarkson K; Wood T; Boerkoel CF; Freeze HH; He M
    Clin Chem; 2016 Jan; 62(1):208-17. PubMed ID: 26430078
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Congenital disorders of glycosylation: sweet news.
    Theodore M; Morava E
    Curr Opin Pediatr; 2011 Dec; 23(6):581-7. PubMed ID: 21970833
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Congenital Disorders of Glycosylation: What Clinicians Need to Know?
    Lipiński P; Tylki-Szymańska A
    Front Pediatr; 2021; 9():715151. PubMed ID: 34540767
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia.
    Dupré T; Barnier A; de Lonlay P; Cormier-Daire V; Durand G; Codogno P; Seta N
    Glycobiology; 2000 Dec; 10(12):1277-81. PubMed ID: 11159919
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation.
    Zeevaert R; Foulquier F; Jaeken J; Matthijs G
    Mol Genet Metab; 2008 Jan; 93(1):15-21. PubMed ID: 17904886
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.